A5061695290- Animal Disease Management and Epidemiology
- Vector-Borne Animal Diseases
- Genomic variations and chromosomal abnormalities
- Amyotrophic Lateral Sclerosis Research
- Viral Infections and Immunology Research
- Congenital Heart Disease Studies
- Agriculture and Farm Safety
- Genomics and Rare Diseases
- Cleft Lip and Palate Research
- Viral Infections and Vectors
- Agricultural Engineering and Mechanization
- Prion Diseases and Protein Misfolding
- dental development and anomalies
- Congenital heart defects research
- Food composition and properties
- Genetics and Neurodevelopmental Disorders
- Congenital Ear and Nasal Anomalies
- HIV, Drug Use, Sexual Risk
- Animal Behavior and Welfare Studies
- HIV/AIDS Research and Interventions
- Craniofacial Disorders and Treatments
- Prenatal Screening and Diagnostics
- Chromatin Remodeling and Cancer
- Agricultural Economics and Policy
- Macrophage Migration Inhibitory Factor
University of Oxford
2025
Mary Lyon Centre at MRC Harwell
2020-2021
Alberta Children's Hospital
2001-2017
University of Calgary
2008-2017
Forestry Tasmania
1999
Abstract An autosomal dominant GGGGCC repeat expansion in intron 1 of the C9orf72 gene is most common genetic cause both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Here, we set out to engineer a targeted mouse model harbouring pathogenic length humanised allele, order pathological mechanisms physiological context. In human disease, repeats typically range from hundreds thousands units length, representing considerable challenge for cellular vivo generation given...
Inherited dental malformations constitute a clinically and genetically heterogeneous group of disorders. Here, we report on four families, three them consanguineous, with an identical phenotype, characterized by significant short stature brachyolmia hypoplastic amelogenesis imperfecta (AI) almost absent enamel. This phenotype was first described in 1996 Verloes et al. as autosomal recessive form associated AI. Whole-exome sequencing resulted the identification hypomorphic mutations including...
Jacobsen syndrome is a rare contiguous gene disorder that results from terminal deletion of the long arm chromosome 11. It typically characterized by intellectual disability, variety physical anomalies and distinctive facial appearance. The 11q has traditionally been identified routine analysis. Array-based comparative genomic hybridization (array-CGH) offered new opportunities to identify refine chromosomal abnormalities in regions known be associated with clinical syndromes.Using 1 Mb BAC...
Background & objectives: To support recent political commitments to end tuberculosis (TB) in the World Health Organization South-East Asian Region (SEAR), there is a need understand by what measures, and with investment, these goals could be reached. These questions were addressed using mathematical models of TB transmission doing analysis on country-by-country basis SEAR. Methods: A dynamical model was developed, consultation each 11 countries Three intervention scenarios examined: (i)...
Amyotrophic lateral sclerosis/frontotemporal dementia (ALS/FTD) is a fatal neurodegenerative disorder, and continued innovation needed for improved understanding developing therapeutics. We have created next-generation genomically humanized knockin mouse models, by replacing the genomic region of Sod1, Tardbp (TDP-43), Fus, with their human orthologs, preserving protein biochemistry splicing exons introns intact. establish new standard large allele quality control, demonstrating utility...
Abstract Treacher Collins syndrome (TCS), the best known form of mandibulofacial dysostosis (MFD) comprises a recognizable pattern anomalies. In 1985, Lowry et al. reported on two Hutterite sisters born to apparently unaffected parents with TCS, raising possibility an autosomal recessive (AR) variant subsequently given unique Mendelian Inheritance Man (MIM) number (248390). Recently, biallelic mutations in POLR1C were found TCS patients, confirming AR as distinct entity. The Hutterites,...
Objective Trisomy of the long arm chromosome 1 is a very rare cytogenetic anomaly that difficult to diagnose because tissue-limited mosaicism. This study aimed further characterize prenatal and post-natal findings associated with this anomaly, including first reported chromosomal microarray finding. Method retrospective six cases mos 46,X,der(Y)t(Y;1)(q12;q21)/46,XY, diagnosed both prenatally post-natally. Detailed clinical features pregnancy outcome were documented. Results Recurrent our...
The aim of this study was to calculate the cost a range needle and syringe program (NSP) models contribute planning for effective NSP delivery. Existing health service data used estimate per distributed across four modes delivery (Primary NSP, including one model Primary providing primary care; Secondary NSP; Vending Machine Outreach) over three years. Costs were primarily affected by ratio volume equipment staff costs. average unit Primary, Outreach approximately $1.00. provision...
Aberrant microsatellite repeat-expansions at specific loci within the human genome cause several distinct, heritable, and predominantly neurological, disorders. Creating models for these diseases poses a challenge, due to instability of such repeats in bacterial vectors, especially with large repeat expansions. Designing constructs more precise engineering projects, as knock-in mice, proves greater challenge still, since unstable require numerous cloning steps order introduce homology arms...